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  • 1-10 ل  48 نتائج ل ""Microcephaly/genetics""

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Academic Journal

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

Subjects: Arthrogryposis/genetics; Carrier Proteins/genetics; Contracture

  • Source: Schnabel , F , Schuler , E , Al-Maawali , A , Chaurasia , A , Syrbe , S , Al-Kindi , A , Bhavani , G S , Shukla , A , Altmüller , J , Nürnberg , P , Banka , S , Girisha , K M , Li , Y , Wollnik , B

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Academic Journal

Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected.

Subjects: Child; Humans; Male

  • Source: Neurobiology of disease, vol. 185, pp. 106259

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Academic Journal

Multifaceted Microcephaly-Related Gene MCPH1

Subjects: Cytoskeletal Proteins/metabolism; Genetic Predisposition to Disease; Genetic Predisposition to Disease [MeSH]

  • Source: Cells, 11(2):275

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Academic Journal

ASPM promotes ATR-CHK1 activation and stabilizes stalled replication forks in response to replication stress

Subjects: DNA Repair/genetics; Nerve Tissue Proteins/genetics; DNA-Binding Proteins/metabolism

  • Source: http://lobid.org/resources/990056715610206441#!, 119(40):e2203783119.

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Academic Journal

The Central Domain of MCPH1 Controls Development of the Cerebral Cortex and Gonads in Mice

Subjects: Cytoskeletal Proteins/metabolism; Cell Cycle Proteins/genetics [MeSH]; Cerebral Cortex/metabolism

  • Source: Cells, 11(17):2715

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Academic Journal

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

Subjects: Humans; Cell Cycle Proteins/genetics; Microcephaly/genetics

  • Source: Grange , L J , Reynolds , J J , Ullah , F , Isidor , B , Shearer , R F , Latypova , X , Baxley , R M , Oliver , A W , Ganesh , A , Cooke , S L , Jhujh , S S , McNee , G S , Hollingworth , R , Higgs ,

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Academic Journal

Large Phenotypic Variation of Individuals from a Family with a Novel ASPM Mutation Associated with Microcephaly, Epilepsy, and Behavioral and Cognitive Deficits

Subjects: info:eu-repo/classification/ddc/570; Biological Variation; PopulationDE

  • Source: Genes 13(3), 429 (2022). doi:10.3390/genes13030429

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Academic Journal

MCPH1:A Novel Case Report and a Review of the Literature

Subjects: Cell Cycle Proteins/genetics; Cytoskeletal Proteins/genetics; Homozygote

  • Source: Caraffi , S G , Pollazzon , M , Farooq , M , Fatima , A , Larsen , L A , Zuntini , R , Napoli , M & Garavelli , L 2022 , ' MCPH1 : A Novel Case Report and a Review of the Literature ' , Genes , vol.

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Academic Journal

MCPH1, beyond its role deciding the brain size

Subjects: Humans; Microcephaly/pathology [MeSH]; Brain/pathology [MeSH]

  • Source: Aging, 13(20):23437-23439

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Academic Journal

Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.

Subjects: Animals; Centrosome/metabolism; Databases

  • Source: Human mutation, vol. 41, no. 2, pp. 512-524

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  • 1-10 ل  48 نتائج ل ""Microcephaly/genetics""